Variant information



Systematic Name c.1030C>G
Protein name p.Arg344Gly
Mutation type missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1030C>G p.Arg344Gly missense C-term Unknown Female Rett syndrome-classical 4803